OBO ID: DOID:0111375
Term Name: fetal akinesia deformation sequence syndrome Search Ontology:
Synonyms:
  • arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
  • FADS
  • fetal akinesia sequence
  • foetal akinesia deformation sequence syndrome
  • foetal akinesia sequence
  • Pena-Shokeir syndrome type 1
Definition: A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. (3)
References:
Ontology: Human Disease   ( DOID:0111375 )
Relationships
is a type of:
has subtype:
OTHER fetal akinesia deformation sequence syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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